Variant report

Variant	rs11886904
Chromosome Location	chr2:54708897-54708898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11885527	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11887031	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11892340	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56852083	1.00[AMR][1000 genomes]
rs60415901	1.00[AMR][1000 genomes]
rs61739882	1.00[AMR][1000 genomes]
rs6710191	0.94[MKK][hapmap]
rs73932848	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7559367	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1004645	chr2:54686497-54718440	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1008888	chr2:54690695-54715300	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv438348	chr2:54693204-54714066	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv817939	chr2:54693204-54718181	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11886904	HEBP2	trans	lymphoblastoid	seeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54697200-54709600	Weak transcription	Placenta	Placenta
2	chr2:54699600-54709200	Weak transcription	Aorta	Aorta
3	chr2:54699800-54709600	Weak transcription	Osteobl	bone
4	chr2:54701400-54709800	Weak transcription	Brain Germinal Matrix	brain
5	chr2:54701600-54715400	Weak transcription	Fetal Kidney	kidney
6	chr2:54702200-54712200	Enhancers	Fetal Heart	heart
7	chr2:54702400-54712000	Enhancers	Colon Smooth Muscle	Colon
8	chr2:54702800-54709000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:54703600-54710400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:54703800-54709000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:54703800-54709000	Weak transcription	Fetal Brain Female	brain
12	chr2:54703800-54709200	Weak transcription	Right Ventricle	heart
13	chr2:54704400-54709000	Weak transcription	A549	lung
14	chr2:54704400-54710400	Enhancers	Right Atrium	heart
15	chr2:54705000-54709200	Enhancers	Liver	Liver
16	chr2:54705000-54710400	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr2:54705200-54709600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:54705200-54709600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:54705200-54709800	Enhancers	Stomach Smooth Muscle	stomach
20	chr2:54705200-54710000	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:54705200-54712400	Enhancers	Brain Hippocampus Middle	brain
22	chr2:54705400-54709600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:54705400-54710000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:54705600-54709000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:54705600-54709600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:54705600-54710000	Weak transcription	Small Intestine	intestine
27	chr2:54705800-54709600	Weak transcription	HSMM	muscle
28	chr2:54705800-54709800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:54706400-54709200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:54706400-54709600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:54706800-54709600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:54706800-54709600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:54706800-54711600	Enhancers	HSMMtube	muscle
34	chr2:54707000-54710400	Enhancers	Fetal Muscle Leg	muscle
35	chr2:54707200-54709000	Enhancers	Fetal Brain Male	brain
36	chr2:54707200-54710600	Enhancers	Brain Angular Gyrus	brain
37	chr2:54707200-54711200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr2:54707200-54711400	Enhancers	Ovary	ovary
39	chr2:54707200-54712000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:54707200-54712200	Enhancers	Brain Cingulate Gyrus	brain
41	chr2:54707200-54712400	Enhancers	Brain Substantia Nigra	brain
42	chr2:54707400-54709200	Weak transcription	HepG2	liver
43	chr2:54707400-54709600	Weak transcription	Hela-S3	cervix
44	chr2:54707400-54709600	Weak transcription	HMEC	breast
45	chr2:54707400-54709600	Weak transcription	HUVEC	blood vessel
46	chr2:54707400-54709600	Weak transcription	K562	blood
47	chr2:54707400-54709800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:54707400-54709800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:54707600-54709000	Weak transcription	Brain Anterior Caudate	brain
50	chr2:54707600-54709600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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